ACE2 (angiotensin converting enzyme 2)

Gene

• Entrez ID: 59272
• Gene name: Angiotensin converting enzyme 2
• Gene symbol: ACE2
• Synonyms (NCBI Gene): ACEH
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secreted protein catalyzes the cleavage of angiotensin I in

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030157	hsa-miR-26b-5p	Microarray	19088304
MIRT734665	hsa-miR-125b-5p	Microarray	33429366
MIRT734668	hsa-miR-200c-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32891636
MIRT755409	hsa-let-7b-5p	qRT-PCR	36073344
MIRT756132	hsa-miR-1246	Luciferase reporter assay, Western blotting, qRT-PCR	36851710
MIRT762451	hsa-miR-2052	CLIP-seq
MIRT762452	hsa-miR-300	CLIP-seq
MIRT762453	hsa-miR-3185	CLIP-seq
MIRT762454	hsa-miR-3545-3p	CLIP-seq
MIRT762455	hsa-miR-3611	CLIP-seq
MIRT762456	hsa-miR-381	CLIP-seq
MIRT762457	hsa-miR-4318	CLIP-seq
MIRT762458	hsa-miR-4424	CLIP-seq
MIRT762459	hsa-miR-4539	CLIP-seq
MIRT762460	hsa-miR-4682	CLIP-seq
MIRT762461	hsa-miR-4693-5p	CLIP-seq
MIRT762462	hsa-miR-4762-3p	CLIP-seq
MIRT762463	hsa-miR-4797-5p	CLIP-seq
MIRT762464	hsa-miR-514	CLIP-seq
MIRT762465	hsa-miR-514b-3p	CLIP-seq
MIRT762466	hsa-miR-892a	CLIP-seq
MIRT2165982	hsa-miR-2113	CLIP-seq
MIRT2165983	hsa-miR-4270	CLIP-seq
MIRT2165984	hsa-miR-4441	CLIP-seq
MIRT2165985	hsa-miR-483-3p	CLIP-seq
MIRT2165986	hsa-miR-587	CLIP-seq
MIRT2165987	hsa-miR-599	CLIP-seq
MIRT762451	hsa-miR-2052	CLIP-seq
MIRT762459	hsa-miR-4539	CLIP-seq
MIRT762462	hsa-miR-4762-3p	CLIP-seq
MIRT762463	hsa-miR-4797-5p	CLIP-seq
MIRT762464	hsa-miR-514	CLIP-seq
MIRT762465	hsa-miR-514b-3p	CLIP-seq
MIRT2435172	hsa-miR-4520a-3p	CLIP-seq
MIRT2435173	hsa-miR-4520b-3p	CLIP-seq
MIRT2435174	hsa-miR-4529-3p	CLIP-seq
MIRT2435175	hsa-miR-511	CLIP-seq
MIRT2435176	hsa-miR-9	CLIP-seq
MIRT2435172	hsa-miR-4520a-3p	CLIP-seq
MIRT2435173	hsa-miR-4520b-3p	CLIP-seq
MIRT2435174	hsa-miR-4529-3p	CLIP-seq
MIRT2435175	hsa-miR-511	CLIP-seq
MIRT2435176	hsa-miR-9	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Repression	19592460

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17906677
GO:0001618	Function	Virus receptor activity	IDA	33077916
GO:0001618	Function	Virus receptor activity	IDA	16051304, 18343844, 33000221, 33082294, 33163980, 33713620, 36228039, 36735681, 36757924
GO:0001618	Function	Virus receptor activity	IEA
GO:0001618	Function	Virus receptor activity	IMP	24227843
GO:0001817	Process	Regulation of cytokine production	IC	15380922
GO:0002003	Process	Angiotensin maturation	IBA
GO:0002003	Process	Angiotensin maturation	IC	10924499
GO:0002003	Process	Angiotensin maturation	IEA
GO:0003051	Process	Angiotensin-mediated drinking behavior	IMP	18258853
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IC	10924499
GO:0003081	Process	Regulation of systemic arterial blood pressure by renin-angiotensin	IMP	18258853
GO:0004175	Function	Endopeptidase activity	IDA	15283675
GO:0004180	Function	Carboxypeptidase activity	IDA	33077916
GO:0004180	Function	Carboxypeptidase activity	IDA	10924499, 10969042, 15283675, 15380922, 18258853
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0004181	Function	Metallocarboxypeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	10969042, 11815627, 14647384, 15479853, 15791205, 18343844, 18931070, 19185582, 19901337, 21068237, 21411533, 22291007, 22523556, 23486063, 23831647, 30102747, 30356097, 32075877, 32132184, 32155444, 32203189, 32225175, 32225176, 32275855, 32332765, 32376634, 32415260, 32437749, 326
GO:0005576	Component	Extracellular region	IDA	10969042, 33713620
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	18258853
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	33163980, 36228039, 36735681, 36757924
GO:0005886	Component	Plasma membrane	IDA	21068237
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IBA
GO:0008237	Function	Metallopeptidase activity	IDA	10924499
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0008241	Function	Peptidyl-dipeptidase activity	IDA	10924499
GO:0008241	Function	Peptidyl-dipeptidase activity	IEA
GO:0008270	Function	Zinc ion binding	TAS	10924499
GO:0009986	Component	Cell surface	IDA	18343844, 24227843
GO:0015827	Process	Tryptophan transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	30102747, 32225176
GO:0016324	Component	Apical plasma membrane	IDA	25534429
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019058	Process	Viral life cycle	NAS	33737693
GO:0019065	Process	Receptor-mediated endocytosis of virus by host cell	NAS	30102747, 32225176
GO:0019081	Process	Viral translation	TAS	27384577
GO:0019229	Process	Regulation of vasoconstriction	IC	15380922
GO:0030666	Component	Endocytic vesicle membrane	TAS
GO:0031526	Component	Brush border membrane	IDA	25534429
GO:0031526	Component	Brush border membrane	IEA
GO:0042127	Process	Regulation of cell population proliferation	TAS	17703127
GO:0042802	Function	Identical protein binding	IPI	32275855, 32678978, 33262453, 34867130
GO:0042995	Component	Cell projection	IEA
GO:0045121	Component	Membrane raft	TAS	18279660
GO:0046513	Process	Ceramide biosynthetic process	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	33163980
GO:0046718	Process	Symbiont entry into host cell	IDA	16051304, 32221306, 33000221, 33082294, 33163980, 33713620, 36228039, 36735681, 36757924
GO:0046718	Process	Symbiont entry into host cell	NAS	30102747, 32225176
GO:0046718	Process	Symbiont entry into host cell	TAS	15165741
GO:0046813	Process	Receptor-mediated virion attachment to host cell	IDA	18343844, 32221306
GO:0046813	Process	Receptor-mediated virion attachment to host cell	NAS	30102747, 32225176
GO:0046872	Function	Metal ion binding	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0050727	Process	Regulation of inflammatory response	IC	15380922
GO:0050727	Process	Regulation of inflammatory response	IDA	17906677
GO:0051957	Process	Positive regulation of amino acid transport	IMP	19185582
GO:0060135	Process	Maternal process involved in female pregnancy	IEA
GO:0060452	Process	Positive regulation of cardiac muscle contraction	IEA
GO:0061025	Process	Membrane fusion	NAS	30102747, 32225176
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IC	15380922
GO:0098670	Process	Entry receptor-mediated virion attachment to host cell	IDA	36228039, 36735681, 36757924
GO:0141109	Function	Transporter activator activity	IGI	25534429
GO:1903598	Process	Positive regulation of gap junction assembly	IMP	12967627
GO:1903779	Process	Regulation of cardiac conduction	IMP	12967627
GO:1905737	Process	Positive regulation of L-proline import across plasma membrane	IGI	25534429
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IC	15380922

Other IDs

• MIM: 300335
• HGNC: 13557
• e!Ensembl: ENSG00000130234

Protein

• UniProt ID: Q9BYF1
• Protein name: Angiotensin-converting enzyme 2 (EC 3.4.17.23) (Angiotensin-converting enzyme homolog) (ACEH) (Angiotensin-converting enzyme-related carboxypeptidase) (ACE-related carboxypeptidase) (EC 3.4.17.-) (Metalloprotease MPROT15) [Cleaved into: Processed angioten
• Protein function: Essential counter-regulatory carboxypeptidase of the renin-angiotensin hormone system that is a critical regulator of blood volume, systemic vascular resistance, and thus cardiovascular homeostasis (PubMed:27217402). Converts angiotensin I to an
• PDB: 1R42, 1R4L, 2AJF, 3D0G, 3D0H, 3D0I, 3KBH, 3SCI, 3SCJ, 3SCK, 3SCL, 6ACG, 6ACJ, 6ACK, 6CS2, 6LZG, 6M0J, 6M17, 6M18, 6M1D, 6VW1, 7A91, 7A92, 7A94, 7A95, 7A96, 7A97, 7A98, 7BH9, 7CT5, 7DDO, 7DDP, 7DF4, 7DMU, 7DQA, 7DRV, 7DWX, 7DX4, 7DX5, 7DX6, 7DX7, 7DX8, 7DX9, 7E7E, 7EDJ, 7EFP, 7EFR, 7EKC, 7EKE, 7EKF, 7EKG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01401	Peptidase_M2	19 → 606	Angiotensin-converting enzyme	Family
  PF16959	Collectrin	617 → 770	Renal amino acid transporter	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells (at protein level) (PubMed:15141377). Expressed in enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level)
• Sequence:

  MSSSSWLLLSLVAVTAAQSTIEEQAKTFLDKFNHEAEDLFYQSSLASWNYNTNITEENVQ
  NMNNAGDKWSAFLKEQSTLAQMYPLQEIQNLTVKLQLQALQQNGSSVLSEDKSKRLNTIL
  NTMSTIYSTGKVCNPDNPQECLLLEPGLNEIMANSLDYNERLWAWESWRSEVGKQLRPLY
  EEYVVLKNEMARANHYEDYGDYWRGDYEVNGVDGYDYSRGQLIEDVEHTFEEIKPLYEHL
  HAYVRAKLMNAYPSYISPIGCLPAHLLGDMWGRFWTNLYSLTVPFGQKPNIDVTDAMVDQ
  AWDAQRIFKEAEKFFVSVGLPNMTQGFWENSMLTDPGNVQKAVCHPTAWDLGKGDFRILM
  CTKVTMDDFLTAHHEMGHIQYDMAYAAQPFLLRNGANEGFHEAVGEIMSLSAATPKHLKS
  IGLLSPDFQEDNETEINFLLKQALTIVGTLPFTYMLEKWRWMVFKGEIPKDQWMKKWWEM
  KREIVGVVEPVPHDETYCDPASLFHVSNDYSFIRYYTRTLYQFQFQEALCQAAKHEGPLH
  KCDISNSTEAGQKLFNMLRLGKSEPWTLALENVVGAKNMNVRPLLNYFEPLFTWLKDQNK
  NSFVGWSTDWSPYADQSIKVRISLKSALGDKAYEWNDNEMYLFRSSVAYAMRQYFLKVKN
  QMILFGEEDVRVANLKPRISFNFFVTAPKNVSDIIPRTEVEKAIRMSRSRINDAFRLNDN
  SLEFLGIQPTLGPPNQPPVSIWLIVFGVVMGVIVVGIVILIFTGIRDRKKKNKARSGENP
  YASIDISKGENNPGFQNTDDVQTSF

• Sequence length: 805

Pathways

KEGG:

Renin-angiotensin system
Protein digestion and absorption
Coronavirus disease - COVID-19

Reactome:

Metabolism of Angiotensinogen to Angiotensins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, ABDOMINAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	18926157		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	22048948		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28433633		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	28249676, 28501298, 31390839		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	27884212, 37183346	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33567524, 34628788	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34115612, 38257800	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29225087		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	33497931	Associate	★☆☆☆☆ Found in Text Mining only
Angina Pectoris	Angina pectoris	Pubtator	23077079	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	26186891		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	19212105		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	25237166	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	25301841, 28142259, 28935757, 30850299, 31189595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Abdominal	Aortic Aneurysm	CTD_human_DG	25301841		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic coarctation	Aortic Coarctation	BEFREE	30863432		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	25237166	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve disorder	Aortic Valve Disease	BEFREE	21316680		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	21316680		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	21316680, 31607667		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	31607667	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11079661, 18403726, 18498093, 18660448, 21252069, 25721616, 28186543, 28413960, 29066981, 30326474, 30850299		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	33300150	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27469342, 30981021		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32348692, 32496587, 32531372, 34198852, 34503323, 35111161, 36038007, 37506151	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	32422146, 33455043	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	33413387	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	30160974		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11079661, 18403726, 18498093, 18660448, 21252069, 25721616, 28186543, 28413960, 29066981, 30326474, 30850299		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	18660448		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19021774, 20798044, 28186543	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	20798044	Inhibit	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	12166654, 18496132, 27738071, 29441892, 30542083, 31375968		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	30542083, 32984892, 33602129	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	34097714	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	32361911	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	36759514	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30055537		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	24799609		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33248385, 36560757, 38497867	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	34445266, 35320941	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34416267, 35901083	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	32635188	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries Diffuse	Brain injuries	Pubtator	35260724	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27063099, 31023337		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33061814, 33517235, 36335375	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35373393	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34471421	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33061814, 35115564	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33421977	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34369278	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23545945, 25605160		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	19212105	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28809959, 32339157, 33274196, 33916968	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32366279, 32639084	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33390830	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32492203, 32639084	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32916258, 33231569	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	15151696, 35012625	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	15769906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	28445944		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	15151696, 25869724, 35138176	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	18560893, 32448590	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	15151696, 24728465, 28744816, 31470292		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16009403, 16822235, 16988814, 18258853, 20392165, 21490025, 22113528, 23013041, 23432153, 24564768, 25237166, 26498282, 27738071, 27889958, 28293165, 28423630, 28445944, 29157100, 30056001, 30347406, 31359146, 31607667, 31849284		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	18403595, 25237166, 30227878, 30347406, 31607667, 32227090, 32305506, 32430651, 32664879, 32795091, 32882331, 33017071, 33251580, 33280062, 33933634, 34001841, 34051791, 35709192, 36125178, 37404175, 37454747, 37644110, 38074420, 38213254	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30227878		★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	30227878	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	19384013	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	32635188	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	27884212		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23266545		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	30342552	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	35105380	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27500554, 29663576, 30056001, 30816157		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	30056001		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	32639084	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	21963832, 22025374, 25869724, 31323221, 31833870		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 3	Kidney Disease	BEFREE	28186543		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23477970		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28038565, 28186543, 28413960, 28820061, 29561187, 30326474		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31494171		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29516284		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36250059	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	33160965	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22048948, 33765612	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32366279, 32639084, 33421977, 34257580	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32675312	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33765612, 34257580	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	37454747	Associate	★☆☆☆☆ Found in Text Mining only
Congenital posterior urethral valves	Congenital Posterior Urethral Valves	BEFREE	16006956, 29534877		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10969042, 15151696, 16179584, 16962475, 18496132, 20392165, 21147120, 21963832, 22025374, 23432153, 24161906, 25869724, 27633839, 28209222, 28970203, 29490639, 29897923, 31323221, 31833870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28809959		★☆☆☆☆ Found in Text Mining only
Cor pulmonale	Cor pulmonale	BEFREE	26322922		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	33049061	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15671045, 16822235, 23013041, 24142614, 26498282, 29897923, 31359146		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16822235, 23013041, 24142614, 29897923, 31359146		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	29897923	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	24142614	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16822235, 23013041, 24142614, 29897923, 31359146		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary stenosis	Pubtator	23077079	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	32227090, 33249290, 33488517, 35250987, 37553526	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	32390091	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	31179321		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	32915959, 34188154	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33156843	Stimulate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	33160965	Inhibit	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	32668165	Stimulate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	36627352, 37579743	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	18838196		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	33053430	Stimulate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	36334414	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	20854388, 22811473, 23230080, 24911884, 27927599, 28413960, 28688122, 29128354, 29266779, 29561187, 29582239, 29761600, 29884907, 30591810, 31380462		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	33254575, 35806251	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30347406, 36531495	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19021774, 19333547, 30227878, 32344305, 32729248, 32981365, 33254553, 33254575, 33506503, 33602129, 33796097, 33933634, 33962629, 34086044, 34416856, 34471195, 35120165, 35305693, 35932065, 37308887, 37644110	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19034303, 35260304	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	20854388, 22811473, 23230080, 24911884, 27927599, 28413960, 28688122, 29128354, 29266779, 29561187, 29582239, 29761600, 29884907, 30591810, 31380462, 31470003, 31610731		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29561187, 32348692, 32917504, 33251580, 34417262, 35561674	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	35260304	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19034303, 32558150	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	20592051, 24142614, 25359286, 27500554, 29561187, 30227878, 33602129, 34067683, 35176079, 35250987, 37274884, 38034011, 38095392	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32639084, 33251580, 35660807	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20854388, 22811473, 28413960, 28468961		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11007831, 16765625, 19034303, 20660625, 21670585, 21993363, 23462816, 23745680, 24142614, 25359286, 26973293, 27500554, 29561187, 30227878		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	28789938, 29266779, 31470292		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19034303, 27775793, 32917504, 33038424, 34086044, 35176079	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	12716812, 15017527, 16211375, 18408475, 19034303, 19077419, 19934006, 20689326, 20854388, 22113528, 22475818, 22791320, 25791940, 26619914, 27927599, 28390948, 28468961, 28688122, 29884907, 30591810, 30769114, 31470292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	18389211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	20844835		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29761600, 31380462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	34086044	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	35398299	Stimulate	★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	25237166		★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	25359286	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	21670585, 30342552		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	30227878, 30342552	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	18495771		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32339157	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32639084, 33061814	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	33394891	Inhibit	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32639084	Stimulate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	12165743, 15233982, 16866021, 17473847, 19286756, 22297693, 24112034, 25237167, 28440441, 28895159, 30307755, 30335025, 30342552, 30542083		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	16866021, 24112034, 30335025, 30342552, 30542083, 34996340, 35130889, 39512695	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30307755	Stimulate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26883384, 30604460		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26406236, 28822808, 28845018, 29335866, 29977014, 31580514		★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	36877757	Associate	★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	21771600		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37404175, 37461168	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	32492203	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35595082	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	19034303	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	34759147	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	18408475, 19034303		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	34097714	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35909539	Inhibit	★☆☆☆☆ Found in Text Mining only
Hartnup Disease	Hartnup Disease	BEFREE	18424768, 19185582, 20134095		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	36362417	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33280062, 37454747	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	15151696, 30335025, 33421274, 33662681, 35046458, 35138176, 35996506	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	24161906, 24728465, 26224885, 29069788		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10969042, 15151696, 16962475, 18496132, 20392165, 21147120, 23432153, 24161906, 25869724, 27633839, 28209222, 28970203, 29490639, 29897923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	15151696, 25869724, 27412778, 29897923, 32227090, 32981365, 33280062, 34390216, 35046458, 38138974	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	35138176	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Injuries	Cardiac injury	Pubtator	32227090	Associate	★☆☆☆☆ Found in Text Mining only
Heart Valve Diseases	Heart valve disease	Pubtator	31607667	Inhibit	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	33223324	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	28186543	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	33255902	Inhibit	★☆☆☆☆ Found in Text Mining only
Hemorrhoids	Hemorrhoid	Pubtator	37932969	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	29157100, 30326474		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29157100, 30326474		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	33657582	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20660625, 23462816, 31470003		★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	27093376	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	16459167, 21298017, 25143330, 27310975, 30542083, 31430320, 32496587, 32639084, 32721806, 32729248, 33254553, 33386398, 33412808, 33506503, 33883027, 33933634, 35120165, 35250987, 35548940, 35996506, 36495008, 37274884, 37667339	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	18403595	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	33053430, 34051791, 34674152	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	19592460, 37454747	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	28929450, 30950337, 30956259, 31339773		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12700890, 15233982, 15640278, 16009403, 16459167, 17303661, 17473847, 18022600, 18258853, 18408475, 18809792, 18926157, 19684612, 19948988, 20392165, 21298017, 21952934, 21993363, 23013041, 23823602, 24014829, 24342297, 24838502, 25519733, 26687160, 27310975, 27738071, 27889958, 28116711, 28423630, 28500595, 28500596, 28512108, 28791402, 28849507, 29480460, 29570986, 29691064, 29706566, 30056001, 30318562, 30443713, 30542083, 30863432, 30917908, 30956259, 31430320, 31564162, 31805646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	15233982, 16215952, 16459167, 17303661, 18022600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15833808, 17473847, 19221212, 20559404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive Nephropathy	Hypertensive nephropathy	Pubtator	18403595	Inhibit	★☆☆☆☆ Found in Text Mining only
hypertensive nephropathy	Hypertensive Nephropathy	BEFREE	28808068		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	30342552	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12166654, 18208662, 18560893		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	18560893		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12166654, 18208662, 18560893		★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	18560893	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	34471195	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	32633718, 33255902	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	19592460, 24134599, 34416267, 34471421	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27093376, 32814566, 33497931, 34670172, 34929459, 36303053, 40222298	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34445747	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30514826		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29146157, 29570986, 29752040, 29903860, 30466619, 30806090		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29731719, 31387171		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	29570986		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	20689326		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29516284		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	34204705	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	25228068		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	24505094	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	33156843, 33160965, 34697723	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17906677, 33254538	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26350204		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	20398667, 35220822	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	16574921		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	15151696, 15769906		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23266545, 24440367		★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	29882088		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	15538735, 16211375, 18408475, 19034303, 19696696, 20854388, 21189404, 23762470, 25391767, 28116710, 28249676, 28413960, 28501298, 28688122, 28820061, 29045335		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	19021774, 19034303, 32744436, 32917504, 33464168, 33807151, 34097714, 34759147, 36751832, 39280326	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	LHGDN	19034303		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	23477970	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34674152	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	35366343	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29520166		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	23477970		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	28809959	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	37243229	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	16283142, 18208662, 18560893, 18926157, 24342297, 28993502, 30917908		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	18208662, 18560893, 19051693		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25701390, 31023337		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	35709192, 39192998, 39958440	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	39958440	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16315782, 16988814, 27082314, 28935640, 29559844		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	17031779, 33061814, 33933634, 35220822, 35305693, 35822676	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32668165	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	27550926		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32916258, 33767597, 34480250, 35082790	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34674152	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	32276140	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27063099, 31023337		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	25663464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23545945, 25605160		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21481527		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28533754		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	27063099		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	20689326		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31380462		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	34520633	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	16459167, 30347406	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16459167, 30347406		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19925624		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	35352942	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	26000817		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	CTD_human_DG	18539642		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23850180		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	BEFREE	12514670		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	32562913	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	32721809	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20541774		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	33190150	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	11116112, 15671045, 16822235, 24134599, 26498282, 26687160, 28501115, 28656296, 28791381, 29897923, 30092400		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23077079, 24134599, 29897923, 32227090	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	15671045, 26498282		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	35046458	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36038007	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	33210729, 34232770	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21481527, 25663464, 27956412, 31642813, 31847529		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	23488800		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	22033511		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome, Minimal Change	Nephrotic Syndrome	BEFREE	20689326, 30514826		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34834998	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	20541774		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	20844835		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	BEFREE	26973293		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28626963, 29636553, 30604460		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	20361351		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21769437, 23545945, 27460845, 31023337		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	17196621		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23745680, 23823602, 26224885, 31484552, 31638856		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	32496587, 32593740, 32721806, 33251580, 33386398, 33412808, 33611766, 33883027, 34625660, 35250987, 36038007, 36217700, 36513710, 37047702, 37644110, 38213254, 39280273	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34674152	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35113445, 35660807	Stimulate	★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	20361351		★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	34471421	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	31519791		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28536469, 31442676, 31519791		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	33231569	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35622184	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21481527		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic diseases	Pubtator	32334082	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	19212105		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19212105, 33231569	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32366279	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29138810		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	34282405	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	28809959		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	17196621		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35107828, 37686360	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	BEFREE	27738071		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	36685490	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31333451		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31442676		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35477803	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	25955555		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	29462546, 30934723		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	18838196		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	29802847		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37108754	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18031458, 23846034		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	17196621		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29146157, 29903860, 30806090		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	31430320, 36038007, 37404175	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32269089, 32428380, 32496587, 32675207, 33174446, 33978304, 34157565, 34671211, 35011584, 35747501	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34051791	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35046647	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22246130, 25435005, 27550926, 28624211, 29084974, 31290182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	33978304	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Raynaud Disease	Raynaud disease	Pubtator	37404175	Associate	★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28808068, 28929450		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28501298		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	21189404		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29882088, 30622158		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	17558469, 20134095, 22246130, 28690868, 28877748, 30784605, 30845246, 31376462		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	32882331	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33278618	Stimulate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	34714440, 37442134	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25359286		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	32422146	Inhibit	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	16315782		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	29925475		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	37404175	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	16001071, 28690868		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	LHGDN	14647384, 15165741		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	14983044, 15194496, 15897467, 15937940, 15950449, 16001071, 16219167, 16337697, 16988814, 17041212, 17079315, 17504232, 17558469, 17825937, 18495771, 18801550, 19198616, 19297479, 19453650, 22291007, 22718567, 24227843, 28690868, 30572566, 31474969		★☆☆☆☆ Found in Text Mining only
Shared Paranoid Disorder	Shared Paranoid Disorder	BEFREE	17196621		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	24203630	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	24203630		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	35040271	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	28814250		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32673940, 34719202	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26883384, 30604460		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32366279	Stimulate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33231569	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	27500554	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31430320		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	25955555		★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	34471195, 35938548, 38497867	Associate	★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	33032170, 33836338, 35938548, 38497867	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31847529		★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	34274504	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	31179321		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33231569	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23013041, 24728465, 27738071, 31189595		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32463098, 33032170, 34509916, 36334414	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	33469663	Associate	★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	32777054, 34073591	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	25869724, 38138974	Associate	★☆☆☆☆ Found in Text Mining only
Vesicoureteral Reflux 1	Vesicoureteral Reflux	BEFREE	14764974		★☆☆☆☆ Found in Text Mining only